Lieto M, Roca A, Santorelli FM, Fico T, De Michele G, Bellofatto M, Saccà F, De Michele G, Filla A. Degenerative and acquired sporadic adult onset ataxia. Neurol Sci. 2019;40(7):1335–42. https://doi.org/10.1007/s10072-019-03856-w.
Berciano J, Gazulla J, Infante J. History of ataxias and paraplegias with an annotation on the first description of striatonigral degeneration. Cerebellum. 2022;21(4):531–44. https://doi.org/10.1007/s12311-021-01328-6.
Orr HT, Zoghbi HY. Trinucleotide repeat disorders. Annu Rev Neurosci. 2007;30:575–621. https://doi.org/10.1146/annurev.neuro.29.051605.113042.
Article CAS PubMed Google Scholar
Mongelli A, Magri S, Salvatore E, Rizzo E, De Rosa A, Fico T, Gatti M, Gellera C, Taroni F, Mariotti C, Nanetti L. Frequency and distribution of polyQ disease intermediate-length repeat alleles in healthy Italian population. Neurol Sci. 2020;41(6):1475–82.
Gardiner SL, Boogaard MW, Trompet S, de Mutsert R, Rosendaal FR, Gussekloo J, Jukema JW, Roos RAC, Aziz NA. Prevalence of carriers of intermediate and pathological polyglutamine disease-associated alleles among large population-based cohorts. JAMA Neurol. 2019;76(6):650–6. https://doi.org/10.1001/jamaneurol.2019.0423.
Mongelli A, Sarro L, Rizzo E, Nanetti L, Meucci N, Pezzoli G, Goldwurm S, Taroni F, Mariotti C, Gellera C. Multiple system atrophy and CAG repeat length: a genetic screening of polyglutamine disease genes in Italian patients. Neurosci Lett. 2018;678:37–42. https://doi.org/10.1016/j.neulet.2018.04.044.
Article CAS PubMed Google Scholar
Sproviero W, Shatunov A, Stahl D, Shoai M, van Rheenen W, Jones AR, Al-Sarraj S, Andersen PM, Bonini NM, Conforti FL, Van Damme P, Daoud H, Del Mar AM, Fogh I, Forzan M, Gaastra B, Gellera C, Gitler AD, Hardy J, Fratta P, La Bella V, Le Ber I, Van Langenhove T, Lattante S, Lee YC, Malaspina A, Meininger V, Millecamps S, Orrell R, Rademakers R, Robberecht W, Rouleau G, Ross OA, Salachas F, Sidle K, Smith BN, Soong BW, Sorarù G, Stevanin G, Kabashi E, Troakes C, van Broeckhoven C, Veldink JH, van den Berg LH, Shaw CE, Powell JF, Al-Chalabi A. ATXN2 trinucleotide repeat length correlates with risk of ALS. Neurobiol Aging. 2017;51:178.e1-178.e9. https://doi.org/10.1016/j.neurobiolaging.2016.11.010.
Article CAS PubMed Google Scholar
GhahremaniNezhad H, Franklin JP, Alix JJP, Moll T, Pattrick M, Cooper-Knock J, Shanmugarajah P, Beauchamp NJ, Hadjivissiliou M, Paling D, Mcdermott C, Shaw PJ, Jenkins TM. Simultaneous ALS and SCA2 associated with an intermediate-length ATXN2 CAG-repeat expansion. Amyotroph Lateral Scler Frontotemporal Degener. 2021;22(7–8):579–82. https://doi.org/10.1080/21678421.2020.1853172.
Rubino E, Mancini C, Boschi S, Ferrero P, Ferrone M, Bianca S, Zucca M, Orsi L, Pinessi L, Govone F, Vacca A, Gai A, Giordana MT, Brusco A, Rainero I. ATXN2 intermediate repeat expansions influence the clinical phenotype in frontotemporal dementia. Neurobiol Aging. 2019;73(231):e7-231.e9. https://doi.org/10.1016/j.neurobiolaging.2018.09.009.
Samukawa M, Hirano M, Saigoh K, Kawai S, Hamada Y, Takahashi D, Nakamura Y, Kusunoki S. PSP-phenotype in SCA8: case report and systemic review. Cerebellum. 2019;18(1):76–84. https://doi.org/10.1007/s12311-018-0955-0.
Article CAS PubMed Google Scholar
Munhoz RP, Teive HA, Raskin S, Troiano AR. Atypical parkinsonism and SCA8. Parkinsonism Relat Disord. 2006;12(3):191–2. https://doi.org/10.1016/j.parkreldis.2005.10.001.
Hall D, Tassone F, Klepitskaya O, Leehey M. Fragile X-associated tremor ataxia syndrome in FMR1 gray zone allele carriers. Mov Disord. 2012;27(2):296–300. https://doi.org/10.1002/mds.24021.
Article CAS PubMed Google Scholar
Hall DA, Nag S, Ouyang B, Bennett DA, Liu Y, Ali A, Zhou L, Berry-Kravis E. Fragile X gray zone alleles are associated with signs of Parkinsonism and earlier death. Mov Disord. 2020;35(8):1448–56. https://doi.org/10.1002/mds.28086.
Article CAS PubMed PubMed Central Google Scholar
Hall DA, Berry-Kravis E, Zhang W, Tassone F, Spector E, Zerbe G, Hagerman PJ, Ouyang B, Leehey MA. FMR1 gray-zone alleles: association with Parkinson’s disease in women? Mov Disord. 2011;26(10):1900–6. https://doi.org/10.1002/mds.23755.
Article PubMed PubMed Central Google Scholar
Loesch DZ, Khaniani MS, Slater HR, Rubio JP, Bui QM, Kotschet K, D’Souza W, Venn A, Kalitsis P, Choo AK, Burgess T, Johnson L, Evans A, Horne M. Small CGG repeat expansion alleles of FMR1 gene are associated with parkinsonism. Clin Genet. 2009;76(5):471–6. https://doi.org/10.1111/j.1399-0004.2009.01275.x.
Article CAS PubMed PubMed Central Google Scholar
Loesch DZ, Tassone F, Mellick GD, Horne M, Rubio JP, Bui MQ, Francis D, Storey E. Evidence for the role of FMR1 gray zone alleles as a risk factor for parkinsonism in females. Mov Disord. 2018;33(7):1178–81. https://doi.org/10.1002/mds.27420.
Article CAS PubMed PubMed Central Google Scholar
Liu Y, Winarni TI, Zhang L, Tassone F, Hagerman RJ. Fragile X-associated tremor/ataxia syndrome (FXTAS) in grey zone carriers. Clin Genet. 2013;84(1):74–7. https://doi.org/10.1111/cge.12026.
Article CAS PubMed Google Scholar
Debrey SM, Leehey MA, Klepitskaya O, Filley CM, Shah RC, Kluger B, Berry-Kravis E, Spector E, Tassone F, Hall DA. Clinical phenotype of adult fragile X gray zone allele carriers: a case series. Cerebellum. 2016;15(5):623–31. https://doi.org/10.1007/s12311-016-0809-6.
Factor SA, Qian J, Lava NS, Hubbard JD, Payami H. False-positive SCA8 gene test in a patient with pathologically proven multiple system atrophy. Ann Neurol. 2005;57(3):462–3. https://doi.org/10.1002/ana.20389.
Alvarez-Mora MI, Madrigal I, Martinez F, Tejada MI, Izquierdo-Alvarez S, Sanchez-Villar de Saz P, Caro-Llopis A, Villate O, Rodríguez-Santiago B, Pérez Jurado LA, Rodriguez-Revenga L, Milà M. Clinical implication of FMR1 intermediate alleles in a Spanish population. Clin Genet. 2018;94(1):153–8. https://doi.org/10.1111/cge.13257.
Article CAS PubMed Google Scholar
Schmitz-Hübsch T, du Montcel ST, Baliko L, Berciano J, Boesch S, Depondt C, Giunti P, Globas C, Infante J, Kang JS, Kremer B, Mariotti C, Melegh B, Pandolfo M, Rakowicz M, Ribai P, Rola R, Schöls L, Szymanski S, van de Warrenburg BP, Dürr A, Klockgether T, Fancellu R. Scale for the assessment and rating of ataxia: development of a new clinical scale. Neurology. 2006;66(11):1717–20 (Erratum in: Neurology. 2006 Jul 25;67(2):299. Fancellu, Roberto [added]).
de Silva R, Greenfield J, Cook A, Bonney H, Vallortigara J, Hunt B, Giunti P. Guidelines on the diagnosis and management of the progressive ataxias. Orphanet J Rare Dis. 2019;14(1):51. https://doi.org/10.1186/s13023-019-1013-9.
Article PubMed PubMed Central Google Scholar
van de Warrenburg BP, van Gaalen J, Boesch S, Burgunder JM, Dürr A, Giunti P, Klockgether T, Mariotti C, Pandolfo M, Riess O. EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood. Eur J Neurol. 2014;21(4):552–62. https://doi.org/10.1111/ene.12341.
Folstein MF. A practical method for grading the cognitive state of patients for the clinician. J Psychiatr Res. 1975;12(3):189–98. https://doi.org/10.1016/0022-3956(75)90026-6.
Article CAS PubMed Google Scholar
Gilman S, Wenning GK, Low PA, Brooks DJ, Mathias CJ, Trojanowski JQ, Wood NW, Colosimo C, Dürr A, Fowler CJ, Kaufmann H, Klockgether T, Lees A, Poewe W, Quinn N, Revesz T, Robertson D, Sandroni P, Seppi K, Vidailhet M. Second consensus statement on the diagnosis of multiple system atrophy. Neurology. 2008;71(9):670–6. https://doi.org/10.1212/01.wnl.0000324625.00404.15.
Article CAS PubMed PubMed Central Google Scholar
Szmulewicz DJ, Roberts L, McLean CA, MacDougall HG, Halmagyi GM, Storey E. Proposed diagnostic criteria for cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS). Neurol Clin Pract. 2016;6(1):61–8. https://doi.org/10.1212/CPJ.0000000000000215.
Article PubMed PubMed Central Google Scholar
Den Dunnen WFA. Trinucleotide repeat disorders. Handb Clin Neurol. 2017;145:383–91. https://doi.org/10.1016/B978-0-12-802395-2.00027-4.
O’Hearn E, Holmes SE, Margolis RL. Spinocerebellar ataxia type 12. Handb Clin Neurol. 2012;103:535–47. https://doi.org/10.1016/B978-0-444-51892-7.00034-6.
Kronquist KE, Sherman SL, Spector EB. Clinical significance of tri-nucleotide repeats in Fragile X testing: a clarification of American College of Medical Genetics guidelines. Genet Med. 2008;10(11):845–7. https://doi.org/10.1097/GIM.0b013e31818b0c8a.
Article PubMed PubMed Central Google Scholar
Sequeiros J, Seneca S, Martindale J. Consensus and controversies in best practices for molecular genetic testing of spinocerebellar ataxias. Eur J Hum Genet. 2010;18(11):1188–95. https://doi.org/10.1038/ejhg.2010.10.
Article PubMed PubMed Central Google Scholar
Laffita-Mesa JM, Velázquez-Pérez LC, Santos Falcón N, Cruz-Mariño T, González Zaldívar Y, Vázquez Mojena Y, Almaguer-Gotay D, AlmaguerMederos LE, Rodríguez Labrada R. Unexpanded and intermediate CAG polymorphisms at the SCA2 locus (ATXN2) in the Cuban population: evidence about the origin of expanded SCA2 alleles. Eur J Hum Genet. 2012;20(1):41–9. https://doi.org/10.1038/ejhg.2011.154.
Article CAS PubMed Google Scholar
Klockgether T. Sporadic adult-onset ataxia. Handb Clin Neurol. 2018;155:217–25.
Comments (0)